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Broad Phenotypic variability in a Single Pedigree With a Novel 1410delC Mutation in the PST Domain of the PAX6 Gene

Citation

Sale, MM and Craig, JE and Charlesworth, JC and Fitzgerald, LM and Hanson, I and Dickinson, JL and Matthews, S and van Heyningen, V and Fingert, J and Mackey, DA, Broad Phenotypic variability in a Single Pedigree With a Novel 1410delC Mutation in the PST Domain of the PAX6 Gene, Human Mutation, 20, (4) pp. 322. ISSN 1098-1004 (2002) [Refereed Article]

DOI: doi:10.1002/humu.9066

Abstract

The PAX6 mutation present in an individual with aniridia was determined and phenotypic features of immediate relatives carrying the same mutation investigated. Mutation analysis revealed a novel single base deletion 1410delC in the PAX6 gene in ten affected individuals. Clinical features ranged from total aniridia to very mild anterior segment findings. Other findings included partial aniridia, iris stromal hypoplasia, keratitis, cataract, glaucoma, optic disc anomalies and foveal hypoplasia. It appears that independent modifying factors may underlie the variability of the different phenotypic features of the PAX6 mutation. Copyright 2002 Wiley-Liss, Inc.

Item Details

Item Type:Refereed Article
Research Division:Medical and Health Sciences
Research Group:Clinical Sciences
Research Field:Medical Genetics (excl. Cancer Genetics)
Objective Division:Health
Objective Group:Clinical Health (Organs, Diseases and Abnormal Conditions)
Objective Field:Hearing, Vision, Speech and Their Disorders
Author:Sale, MM (Dr Michele Sale)
Author:Craig, JE (Mr Jamie Craig)
Author:Charlesworth, JC (Dr Jac Charlesworth)
Author:Fitzgerald, LM (Dr Liesel Fitzgerald)
Author:Dickinson, JL (Associate Professor Joanne Dickinson)
Author:Mackey, DA (Professor David Mackey)
ID Code:24652
Year Published:2002
Web of Science® Times Cited:33
Deposited By:Menzies Centre
Deposited On:2002-08-01
Last Modified:2011-10-07
Downloads:0

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